Mitochondrial myopathy

Test Information

Test Name

Mitochondrial myopathy


MELAS; Mitochondrial Myopathy: Targeted Mitochondrial DNA Sequencing; Mitochondrial point mutation; CPEO; Leigh disease; MERRF; MIDD



Price Disclaimer

Many services are free for eligible patients. A minimum charge may apply. Prices listed are for unfunded, individual, requests. Please contact us for commercial testing.

Preferred Specimen

Buccal cells/ EDTA Whole blood

Testing Location


Collection Information


Buccal cell collection protocol:

  • Patient should swill ~10 mL of sterile water vigorously around their mouth for 20-30 seconds, then spit the collevction into a sterile pottle for sending to the lab
  • Alternatively a light swab of the cheek with a dry swab, which is then immersed immediately in ~10mL of sterile saline. NOT a gel media swab kit

Processing Information

Registration Code




View Interpretations

External Referral Information

Referral Location

Canterbury Health Laboratory (via WHL)

External Lab Website